St. Jude has been committed to understanding, treating, and curing sickle cell disease since its opening in 1962.
Sickle cell disease (SCD) is an autosomal recessive disorder caused by a missense mutation in the HBB gene, which encodes the ß-subunit of adult hemoglobin. Now, recent insights into the regulatory mechanisms of red blood cell gene expression and emerging technologies to manipulate the genome are fueling innovative new therapies and potential cures for SCD.
Discoveries made at St. Jude, in collaboration with investigators across the country, are rapidly advancing our appreciation for the nuances of gene editing, our understanding of the genomic regulatory landscape, and our capacity to implement new technologies in the therapeutic development pipeline. The insights gained from these studies hold the promise to transform the way we understand and treat sickle cell disease and other ß-hemoglobinopathies.
Researchers have long envisioned targeting the fetal to adult globin switch as a therapeutic approach for beta hemoglobinopathies. Dr. Mitch Weiss and colleagues mapped the fetal hemoglobin promoter, identifying regions for targeted disruption and demonstrating practical applications for SCD therapy.
St. Jude scientists have developed an integrated, high-throughput system to address a major challenge in biology - identifying, understanding, and manipulating the genetic switches that regulate gene expression.
A collaborative effort led by St. Jude scientists have advanced a new mechanism-based therapy using a nucleotide base editing tool with exquisite resolution. The results, published in Nature, offer the promise of a one-time treatment, and perhaps even cure, of sickle cell disease.
Sickle Cell Disease Data Portal
The Sickle Cell Disease Portal offers robust genomic and clinical data from cohorts of individuals with sickle cell disease. This data, offered on St. Jude Cloud, is easily and securely available to academic researchers. Genetic modifiers strongly influence outcomes in sickle cell disease. The goal of the Sickle Cell Disease Portal is to promote global collaborative efforts to understand the genetic underpinnings of the disease and develop better therapies.
Doctors and researchers work together to learn how to best treat children and manage their sickle cell disease, including sickle cell anemia and other disorders. Bridging the gap between treatment and research, St. Jude scientists are conducting a study to help uncover insights into the long-term effects of sickle cell disease, including sickle cell anemia and other disorders. In addition, St. Jude will sequence the genomes of 1,000 children with sickle cell disease to understand why some patients experience more severe symptoms.